Sugarman brachydactyly
historical
Synonyms: Sugarman-Hager-Kulik syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sugarman brachydactyly | Sugarman-Hager-Kulik syndrome |
| fr | Brachydactylie de Sugarman | Syndrome de Sugarman-Hager-Kulik |
| de | Sugarman-Brachydaktylie | Sugarman-Hager-Kulik-Syndrom |
| es | Braquidactilia de Sugarman | Síndrome de Sugarman-Hager-Kulik |
| it | Brachidattilia di Sugarman | |
| nl | Brachydactylie van Sugarman | Syndroom van Sugarman-Hager-Kulik |
| pt | Braquidactilia Sugarman | |
| pl | Brachydaktylia Sugarmana | Zespól Sugarmana, Hagera i Kulika |
| cs | Sugarmanova brachydaktylie | Sugarman-Hager-Kulik syndrome · Sugarman-Hager-Kulik syndrom |
| uk | Брахідактилія Шугермана | Синдром Шугармана-Хагера-Кулика |
| zh | 糖人多指畸形 | Sugarman-Hager-Kulik综合征 |
| tr | Sugarman brakidaktili | Sugarman-Hager-Kulik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272150 | E | validated | |
| ICD-10 | Q71.8 | NTBT | attributed | validated |
| MONDO | 0010087 | E | validated | |
| UMLS | C5399870 | E | validated | |
| GARD | 5058 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 4469972[PMID]_7083610[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4469972[PMID]_7083610[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498602
- This record as JSON: /data/d/498602.json